Publications:

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

Genes

Moreno-Artero, Ester E; Morice-Picard, Fanny F; Lasseaux, Eulalie E; Robert, Matthieu P MP; Coste, Valentine V; Michaud, Vincent V; Leclerc-Mercier, Stéphanie S; Bremond-Gignac, Dominique D; Arveiler, Benoit B; Hadj-Rabia, Smail S

Publication Date: 2022-11-23

Variant appearance in text: SLC45A2: 1532C>A

PubMed Link: 36553465

Variant Present in the following documents:

• genes-13-02198.pdf

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Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Investigative Ophthalmology & Visual Science

Gargiulo, Annagiusi A; Testa, Francesco F; Rossi, Settimio S; Di Iorio, Valentina V; Fecarotta, Simona S; de Berardinis, Teresa T; Iovine, Antonello A; Magli, Adriano A; Signorini, Sabrina S; Fazzi, Elisa E; Galantuomo, Maria Silvana MS; Fossarello, Maurizio M; Montefusco, Sandro S; Ciccodicola, Alfredo A; Neri, Alberto A; Macaluso, Claudio C; Simonelli, Francesca F; Surace, Enrico Maria EM

Publication Date: 2011-03

Variant appearance in text: MATP: 1532C>A

PubMed Link: 20861488

Variant Present in the following documents:

• Main text

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